Monday, May 4, 2009

Patau's Syndrome


Of all the horrible abnormalities, Patau's Syndrome takes the top. Patau's Syndrome was discovered in 1657 by Eramus Barthalon. The cause for this is that a fetus has three copies of chromosome 13, as opposed to the normal level of two. This random genetic accident can result in many abominations. The symptons include incomplete eyesight and smelling nerves, deafness,cleft lip and/or palate, a flat face, lowered or malformed ears, extra fingers or toes along with deformed hands and feet, respiratory difficulties and heart defects, severe organ deformities, and basically anything else that could be wrong with someone. In addition, the brain may not divide into lobes or hemispheres and would be unusually small. And the child is almost always mentally retarded. Unfortunately, there is no treatment for this terrible syndrome that mars the patient's body severely. However, surgery can be done to try to mend some of these deformities, yet this is more for the patients comfort than anything else. The mortality of Patau's Syndrome is truly sad. 82% of the patients that survive being born die within the first month of infancy. 5-10% pass away after one year. The oldest known person with the Syndrome survived up to 33. About one in every twelve-thousand infants have Patau's Syndrome and survive to their first birthday. One in every sixteen-thousand fetuses have Patau's and result in a miscarraige. No fetus is more vulnerable or safe from Patau's Syndrome then the next. The presence of the extra chromosome is just a random genetic accident. Hopefully, scientist will be able to find a cure, but there is nothing that could prevent Patau's at the time.

1 comment:

Trisomy 13 Life with Natalia ~ Transformed by Love said...

You've chosen to share the most severe, and the most rare of the trisomy abnormalities.

Please share this resource also..
Living with Trisomy 13 - Photos and Videos of Children living with Patau Syndrome.

Over 200 family stories, prenatal, children now living with trisomy 13 and treasured memory album pages.

Trisomy 13 - photos, videos, support, resources and links.
www.livingwithtrisomy13.org

ThereseAnn, Mom to Natalia now 8 yrs living with trisomy 13. While there is much "shock value" literature on trisomy 13, the stories within the LWT13 site will tell you the "reality" of living with this diagnosis. Not all of these kids look like these pathology pics you've posted on your blog.